Variant position: 267 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 414 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human DLIIKGISVHISNAEPKHNS NRQLERSGRFGGNPGGFGNQG
Mouse DLIIKGISVHISNAEPKHNS NRQLERSGRFGGNPGGFGNQG
Chicken DLIIKGISVHISNAEPKHNS NRQLERGGRFGGNPGGFGNQG
Xenopus tropicalis DLIIKGVSVHVSTAEPKHNN NRQLERGGRFPGPS--FGNQ-
Caenorhabditis elegans SLTVNGLSVGLSIAQPREEN NQSV-------GPD--YGLPA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 414 TAR DNA-binding protein 43
216 – 414 Interaction with UBQLN2
263 – 263 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.
Corrado L.; Ratti A.; Gellera C.; Buratti E.; Castellotti B.; Carlomagno Y.; Ticozzi N.; Mazzini L.; Testa L.; Taroni F.; Baralle F.E.; Silani V.; D'Alfonso S.;
Hum. Mutat. 30:688-694(2009)
Cited for: VARIANTS ALS10 SER-267; SER-287; VAL-294; SER-295; ARG-295; ASN-332; ASP-335; VAL-337; PRO-379; CYS-379; THR-382 AND LEU-393;
Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.
Borroni B.; Bonvicini C.; Alberici A.; Buratti E.; Agosti C.; Archetti S.; Papetti A.; Stuani C.; Di Luca M.; Gennarelli M.; Padovani A.;
Hum. Mutat. 30:E974-E983(2009)
Cited for: INVOLVEMENT OF VARIANT ALS10 SER-267 IN FRONTOTEMPORAL DEMENTIA;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.